PHOSPHO2-KLHL23[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 2267244	NM_001008489.4(PHOSPHO2):c.5A>G (p.Lys2Arg)	PHOSPHO2, PHOSPHO2-KLHL23 (K2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570028	NM_001008489.4(PHOSPHO2):c.37A>G (p.Ile13Val)	PHOSPHO2, PHOSPHO2-KLHL23 (I13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516716	NM_001008489.4(PHOSPHO2):c.50A>G (p.Asn17Ser)	PHOSPHO2, PHOSPHO2-KLHL23 (N17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373686	NM_001008489.4(PHOSPHO2):c.224C>A (p.Thr75Asn)	PHOSPHO2, PHOSPHO2-KLHL23 (T75N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459397	NM_001008489.4(PHOSPHO2):c.232A>G (p.Met78Val)	PHOSPHO2, PHOSPHO2-KLHL23 (M78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417915	NM_001008489.4(PHOSPHO2):c.284T>C (p.Ile95Thr)	PHOSPHO2, PHOSPHO2-KLHL23 (I95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471883	NM_001008489.4(PHOSPHO2):c.295G>T (p.Asp99Tyr)	PHOSPHO2, PHOSPHO2-KLHL23 (D99Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284719	NM_001008489.4(PHOSPHO2):c.305C>T (p.Ser102Leu)	PHOSPHO2, PHOSPHO2-KLHL23 (S102L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417916	NM_001008489.4(PHOSPHO2):c.313A>T (p.Ile105Leu)	PHOSPHO2, PHOSPHO2-KLHL23 (I105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402602	NM_001008489.4(PHOSPHO2):c.338G>A (p.Ser113Asn)	PHOSPHO2, PHOSPHO2-KLHL23 (S113N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2298074	NM_001008489.4(PHOSPHO2):c.490C>G (p.Gln164Glu)	PHOSPHO2, PHOSPHO2-KLHL23 (Q164E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557204	NM_001008489.4(PHOSPHO2):c.530T>C (p.Ile177Thr)	PHOSPHO2, PHOSPHO2-KLHL23 (I177T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417914	NM_001008489.4(PHOSPHO2):c.605A>T (p.Tyr202Phe)	PHOSPHO2, PHOSPHO2-KLHL23 (Y202F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417912	NM_001008489.4(PHOSPHO2):c.638A>C (p.Gln213Pro)	PHOSPHO2, PHOSPHO2-KLHL23 (Q213P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417913	NM_001008489.4(PHOSPHO2):c.644T>A (p.Leu215His)	PHOSPHO2, PHOSPHO2-KLHL23 (L215H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326575	NM_001008489.4(PHOSPHO2):c.711T>G (p.Phe237Leu)	PHOSPHO2, PHOSPHO2-KLHL23 (F237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520534	NM_001008489.4(PHOSPHO2):c.715A>G (p.Ile239Val)	PHOSPHO2, PHOSPHO2-KLHL23 (I239V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327849	NM_144711.6(KLHL23):c.49A>G (p.Thr17Ala)	KLHL23, PHOSPHO2-KLHL23 (T17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288937	NM_144711.6(KLHL23):c.70G>A (p.Asp24Asn)	KLHL23, PHOSPHO2-KLHL23 (D24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316745	NM_144711.6(KLHL23):c.158C>T (p.Ala53Val)	KLHL23, PHOSPHO2-KLHL23 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115560	NM_144711.6(KLHL23):c.160G>A (p.Val54Ile)	KLHL23, PHOSPHO2-KLHL23 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3535087	NM_144711.6(KLHL23):c.189G>T (p.Lys63Asn)	KLHL23, PHOSPHO2-KLHL23 (K63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3535085	NM_144711.6(KLHL23):c.218A>C (p.Lys73Thr)	KLHL23, PHOSPHO2-KLHL23 (K73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3535084	NM_144711.6(KLHL23):c.314G>T (p.Arg105Ile)	KLHL23, PHOSPHO2-KLHL23 (R105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288938	NM_144711.6(KLHL23):c.431C>G (p.Ser144Cys)	KLHL23, PHOSPHO2-KLHL23 (S144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115561	NM_144711.6(KLHL23):c.556A>G (p.Ile186Val)	KLHL23, PHOSPHO2-KLHL23 (I186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3535086	NM_144711.6(KLHL23):c.588A>C (p.Lys196Asn)	KLHL23, PHOSPHO2-KLHL23 (K196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288935	NM_144711.6(KLHL23):c.647T>C (p.Ile216Thr)	KLHL23, PHOSPHO2-KLHL23 (I216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356660	NM_144711.6(KLHL23):c.650A>G (p.Glu217Gly)	KLHL23, PHOSPHO2-KLHL23 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115562	NM_144711.6(KLHL23):c.727A>G (p.Arg243Gly)	KLHL23, PHOSPHO2-KLHL23 (R243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791119	NM_144711.6(KLHL23):c.791A>G (p.His264Arg)	KLHL23, PHOSPHO2-KLHL23 (H264R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3115563	NM_144711.6(KLHL23):c.798G>T (p.Glu266Asp)	KLHL23, PHOSPHO2-KLHL23 (E266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288940	NM_144711.6(KLHL23):c.881C>A (p.Pro294His)	KLHL23, PHOSPHO2-KLHL23 (P294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270156	NM_144711.6(KLHL23):c.887C>T (p.Thr296Ile)	KLHL23, PHOSPHO2-KLHL23 (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298173	NM_144711.6(KLHL23):c.991G>A (p.Asp331Asn)	KLHL23, PHOSPHO2-KLHL23 (D331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590397	NM_144711.6(KLHL23):c.1195A>G (p.Ile399Val)	KLHL23, PHOSPHO2-KLHL23 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288941	NM_144711.6(KLHL23):c.1333G>A (p.Glu445Lys)	KLHL23, PHOSPHO2-KLHL23 (E445K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115557	NM_144711.6(KLHL23):c.1340G>A (p.Ser447Asn)	KLHL23, PHOSPHO2-KLHL23 (S447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288936	NM_144711.6(KLHL23):c.1405T>A (p.Tyr469Asn)	KLHL23, PHOSPHO2-KLHL23 (Y469N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455304	NM_144711.6(KLHL23):c.1457A>C (p.Asn486Thr)	KLHL23, PHOSPHO2-KLHL23 (N486T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115558	NM_144711.6(KLHL23):c.1459G>C (p.Glu487Gln)	KLHL23, PHOSPHO2-KLHL23 (E487Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605329	NM_144711.6(KLHL23):c.1492A>G (p.Arg498Gly)	KLHL23, PHOSPHO2-KLHL23 (R498G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599600	NM_144711.6(KLHL23):c.1504G>A (p.Gly502Ser)	KLHL23, PHOSPHO2-KLHL23 (G502S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406918	NM_144711.6(KLHL23):c.1565C>T (p.Thr522Met)	KLHL23, PHOSPHO2-KLHL23 (T522M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115559	NM_144711.6(KLHL23):c.1579A>G (p.Ile527Val)	KLHL23, PHOSPHO2-KLHL23 (I527V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288942	NM_144711.6(KLHL23):c.1598A>G (p.Asp533Gly)	KLHL23, PHOSPHO2-KLHL23 (D533G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403368	NM_144711.6(KLHL23):c.1673T>A (p.Val558Asp)	KLHL23, PHOSPHO2-KLHL23 (V558D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 53